Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported?

Molecular Genetics and Metabolism

Volumn 104, Issue 1-2, 2011, Pages 107-111

  Jain Ghai, Shailly ^a,b   Nagamani, Sandesh C Sreenath ^c   Blaser, Susan ^a,b   Siriwardena, Komudi ^a,b   Feigenbaum, Annette ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Arginase deficiency; Guanidino compounds; Hyperammonemia; Hyperargininemia; Orotic acid

Indexed keywords

4 PHENYLBUTYRIC ACID; AMMONIA; ARGINASE 1; ARGININE; BENZOIC ACID; BENZOIC ACID PLUS PHENYLACETIC ACID; CITRULLINE; GLUTAMINE; ORNITHINE; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID; PHENOBARBITAL; PHENYLACETIC ACID;

AMINO ACID ANALYSIS; AMINO ACID BLOOD LEVEL; AMMONIA BLOOD LEVEL; ARGINASE 1 DEFICIENCY; ARTICLE; ASSISTED VENTILATION; BODY HEIGHT; BODY WEIGHT; BRAIN DISEASE; CASE REPORT; CONSANGUINEOUS MARRIAGE; CREATININE URINE LEVEL; DIET THERAPY; DRUG DOSE TITRATION; ENZYME DEFICIENCY; FEEDING; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HEAD CIRCUMFERENCE; HEMODIALYSIS; HOMOZYGOSITY; HUMAN; HYPERAMMONEMIA; HYPERREFLEXIA; INFANT; INTUBATION; IRAQ; IRRITABILITY; LETHARGY; LOW DRUG DOSE; MALE; MUSCLE HYPERTONIA; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN RESTRICTION; RESPIRATORY DISTRESS; SEIZURE; URINE LEVEL;

AMMONIA; ARGININE; BRAIN; CHILD; CHILD, PRESCHOOL; FEMALE; GLUTAMINE; HUMANS; HYPERAMMONEMIA; HYPERARGININEMIA; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; ORNITHINE; OROTIC ACID;

EID: 80052535969     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.06.025     Document Type: Article

References (28)

1. Crombez E.A., Cederbaum S.D. Hyperargininemia due to liver arginase deficiency. Mol. Genet. Metab. 2005, 84:243-251.
2. Yasuda N., Moriwaki K., Furuyama S. Distribution and properties of arginase in the salivary glands of four species of laboratory mammals. J. Comp. Physiol. 2004, 174:237-242.
3. Grody W.W., Kern R.M., Klein D., Dodson A.E., Wissman P.B., Barsky S.H., Cederbaum S.D. Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isoenzyme. Hum. Genet. 1993, 91:1-5.
4. Luiking Y.C., Engelen M.P.K.J., Deutz N.E.P. Regulation of nitric oxide production in health and disease. Curr. Opin. Clin. Nutr. Metab. Care. 2010, 13:97-104.
5. De Deyn P., Marescau B., Lornoy W., Becaus I., Lowenthal A. Guanidino compounds in uraemic dialysed patients. Clin. Chim. Acta 1986, 157:143-150.
6. Cederbaum S.D., Yu H., Grody W.W., Kern R.M., Yoo P., Iyer R.K. Arginases I and II: do their functions overlap?. Mol. Genet. Metab. 2004, 81(Suppl 1):S38-S44.
7. Picker J.D., Puga A.C., Levy H.L., Marsden D., Shih V.E., et al. Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J. Pediatr. 2003, 142(3):349-352.
8. Braga A.C., Vilarinho L., Ferreira E., Rocha H. Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis. J. Pediatr. Gastroenterol. Nutr. 1997, 24:218-221.
9. Jorda A., Rubio V., Portoles M., Vilas J., Garcia-Pino J. A new case of arginase deficiency in a Spanish male. J. Inherit. Metab. Dis. 1986, 9:393-397.
10. Scholl-Bürgi S., Baumgartner Sigl S., Häberle J., Haberlandt E., Rostásy K., Ertl C., Eichinger-Öttl U., Heinz-Erian P., Karall D. Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency. J. Inherit. Metab. Dis. 006 2008, online.
11. Schiff M., Benoist J.F., Cardoso M.L., Elmaleh-Berges M., Forey P., Santiago J., Ogier de Baulny H. Early onset hyperargininaemia: a severe disorder?. J. Inherit. Metab. Dis. 2009, online (report #165).
12. Segawa Y., Matsufuji M., Itokazu N., Utsunomiya H., Watanbe Y., Yoshino M., Takashima S. A long-term survival case of arginase deficiency with severe multicystic white matter and compound mutations. Brain Dev. 2011, 33:45-48.
13. Scaglia F., Lee B. Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. Am. J. Med. Genet. Part C 2006, 142:113-120.
14. Haberle J. The management of hyperammonemia. Eur. J. Pediatr. 2011, 170:21-34.
15. Cederbaum S.D., Shaw K.N., Spector E.B., Verity M.A., Snodgrass P.J., Sugarman G.I. Hyperargininemia with arginase deficiency. Pediatr. Res. 1979, 13:827-833.
16. Deignan J.L., De Deyn P.P., Cederbaum S.D., Fuchshuber A., Roth B., Gsell W., Marescau B. Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia. Mol. Genet. Metab. 2010, 100(Suppl):S31-S36.
17. Prasad A.N., Breen J.C., Ampola M.G., Rosman P. Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. J. Child Neurol. 1997, 301-309.
18. Norenberg M.D., Martinez-Hernandez A. Fine structural localization of glutamine synthetase in astrocytes of rat brain. Brain Res. 1979, 161:303-310.
19. Albrecht J., Dolinska M. Glutamine as a pathogenic factor in hepatic encephalopathy. J. Neurosci. Res. 2001, 65:1-5.
20. Gungor S., Akinci A., Firat A.K., Tabel Y., Alkan A. Neuroimaging findings in hyperargininemia. J Neuroimaging 2008, 4:457-462.
21. Oldham M.S., VanMeter J.W., Shattuck K.F., Cederbaum S.D., Gropman A.L. Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. Pediatr. Neurol. 2010, 42:49-52.
22. Blaser S., Feigenbaum A. A neuroimaging approach to inborn errors of metabolism. Neuroimaging Clin. N. Am. 2004, 14:307-329.
23. Snyderman S.E., Sansaricq C., Chen W.J., Norton P.M., Pansalkar S.V. Argininemia. J. Pediatr. 1977, 90:563-568.
24. Naylor E.W., Cederbaum S.D. Urinary pyrimidine excretion in arginase deficiency. J. Inherit. Metab. Dis. 1981, 4:207-210.
25. Brosnan E.M., Brosnan J.T. Orotic acid excretion and arginine metabolism. J. Nutr. 2007, 137:1656S-1661S.
26. Bernard A., Meier C., Lopez N., May J., Chang P., Boulanger B., Kearney P. Packed red blood cell-associated arginine depletion is mediated by arginase. J. Trauma 2007, 63:1108-1112.
27. Leonard J.V., McKiernan P.J. The role of liver transplantation in urea cycle disorders. Mol. Genet. Metab. 2004, 81(Suppl 1):S74-S78.
28. Santos Silva E., Martins E., Cardoso M.L., Barbot C., Vilarinho L., Medina M. Liver transplantation in a case of argininaemia. J. Inherit. Metab. Dis. 2001, 24:885-887.